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P

Pachyonychia Congenita type 1 (PC1)

Pachyonychia Congenita type 2 (PC2)

Pallister Hall syndrome (PHS)

Palmoplantar keratoderma with deafness/ Nonsyndromic Sensorineural Mitochondrial Deafness/ Aminoglycoside-Induced Deafness

Palmoplantar Keratoderma with SNHL

Pancreatic Cancer

Papillon-Lefevre Syndrome

Paraganglioma

Parathyroid Carcinoma

Paroxysmal Extreme Pain Disorder (PEPD)

Paroxysmal Kinesigenic Dyskinesia (PKD)

Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions (PKD/IC or ICCA)

Partial Epilepsy with Auditory Features, Autosomal Dominant

Pearson Syndrome

Pendred Syndrome

Pendred syndrome / DFNB4

Peripheral neuropathy, hoarseness, and hearing loss, DFNA4

Periventricular Nodular Heterotopia

Permanent Neonatal Diabetes (PND)

Perrault Syndrome

Perrault Syndrome

Perrault Syndrome / D-bifunctional Protein Deficiency

Perrault Syndrome 4 (PRLTS4)

Peter’s Anomaly

Peutz-Jeghers Syndrome

Phenylketonuria

Pheochromocytoma

Pitt Hopkins Syndrome

Pneumothorax, Primary Spontaneous

Polymicrogyria

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)

Pompe Disease

Pontocerebellar Hypoplasia (PCH)

Popliteal Pterygium Syndrome

Prader-Willi syndrome (PWS)

Premature Ovarian Failure (FMR1-Associated)

Premature Ovarian Failure (POF)

Prenatal Cornelia de Lange Syndrome (CdLS)

Primary AR microcephaly

Primary Coenzyme Q10 Deficiency

Primary/Systemic Carnitine Deficiency

Progressive Familal Intrahepatic Cholestatis 4/ Familial Hypercholanemia/ DFNA51

Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis-2 (PFIC2)

Progressive Myoclonic Epilepsy

Progressive Neurodevelopmental Syndrome in Males

Prolidase Deficiency

Propionic Acidemia

Prostate Cancer

Proteus Syndrome/Proteus-like Syndrome

Proximal Myotonic Myopathy (PROMM)

Pseudo-Vitamin D-Deficiency Rickets

Pseudoachondroplasia (PSACH)

Pseudoxanthoma Elasticum (PXE)

PTEN associated Macrocephaly/Autism Syndrome

PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome

Pulmonary Arterial Hypertension

Purine Nucleoside Phosphorylase Deficiency

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome

Pyridoxine Dependent Seizures

Pyridoxine-Refractory Sideroblastic Anemia

Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive

Pyruvate Carboxylase Deficiency

Pyruvate dehydrogenase complex deficiency

Pyruvate Dehydrogenase E1-Alpha Deficiency

Pyruvate Dehydrogenase E1-Beta Deficiency

Pyruvate Metabolism

HASTALIKLARA GÖRE TESTLER

*Detaylı bilgi için her bir hastalığın üstüne tıklayınız.

*Bizim yapmadığımız testlerin bazılarını çalıştırdığımız, hepsi sertifikalı ve yetkin, tüm yurt dışı ve yurt içi Laboratuvarlar ile anlaÅŸmalıyız. Fiyat indirimi, doku örneklerinin güvenli bir ÅŸekilde eldesi, gönderimi ve takibi, testlerin açıklanması ve hastaya genetik danışmanlığının verilmesi tamamen bize ait sorumluluklardır.

*Hastalıklar zaman zaman orijinal, zaman zaman Türkçe isimleriyle dizinlenmiÅŸtir. Mümkün olduÄŸunca Türkçe açıklamalara yer verilmeye çalışılmıştır. 

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© Copyright 2023 by Dr. Hakan Ulucan "GEN HEKİMİ"

Cumhuriyet Mah Yıldıray Çınar Sok No:21

Büyükçekmece İstanbul

0212 872 13 96

0533 409 25 45

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